High palate, and Confusion

Diseases related with High palate and Confusion

In the following list you will find some of the most common rare diseases related to High palate and Confusion that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome|opd syndrome 2|opd ii syndrome|fpo|cranioorodigital syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 2

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Other less relevant matches:

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Top 5 symptoms//phenotypes associated to High palate and Confusion

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Confusion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Muscular hypotonia Low-set ears Feeding difficulties Respiratory insufficiency Acidosis Respiratory failure Feeding difficulties in infancy Hypertelorism Posteriorly rotated ears Cataract Respiratory distress Flexion contracture Neonatal hypotonia Lethargy Depressed nasal bridge Hydronephrosis Vomiting Thin upper lip vermilion Severe global developmental delay Growth delay Prominent forehead Agenesis of corpus callosum Postnatal growth retardation Abnormal facial shape Metabolic acidosis Downslanted palpebral fissures Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Partial agenesis of the corpus callosum Coma Skeletal muscle atrophy Thick lower lip vermilion Hypospadias Pectus excavatum Ventriculomegaly Clinodactyly Muscle weakness Aciduria Sloping forehead Difficulty running Developmental regression Ptosis Thick vermilion border Abnormality of the pinna Pain Cerebral atrophy Broad forehead Epicanthus Coxa valga Tetraparesis Anemia Short palm Ataxia Bulbous nose Hydrocephalus Macrocephaly Short nose Large fontanelles Inguinal hernia Intrauterine growth retardation Myopia Hernia Dilatation Midface retrusion Malar flattening Tapered finger Polymicrogyria Flat face Anteverted nares Dandy-Walker malformation Abnormal heart morphology Wide anterior fontanel Narrow mouth Motor delay Cryptorchidism Cleft palate Abnormality of eye movement Hearing impairment Short stature Strabismus Elevated hepatic transaminase Congenital hip dislocation Prominent supraorbital ridges Kyphoscoliosis Elevated serum creatine phosphokinase Hypoplasia of the corpus callosum Hypoglycemia Frontal bossing Hypercholesterolemia Absent speech Abnormal intestine morphology Hyperlipidemia Sepsis Diarrhea Cystathioninemia Cystathioninuria Decreased adenosylcobalamin Megaloblastic bone marrow Decreased methionine synthase activity Gastroesophageal reflux Hypoalbuminemia Cognitive impairment Encephalopathy Constipation Intellectual disability, mild Cerebellar atrophy Blindness Intellectual disability, severe Intractable diarrhea Hyponatremia Myoclonus Hyperhomocystinemia Enterocolitis Protein-losing enteropathy Villous atrophy Malnutrition Decreased methylcobalamin Bundle branch block Glossitis Hypertrophic cardiomyopathy Gowers sign Progressive muscle weakness Left ventricular hypertrophy Ventricular hypertrophy Generalized muscle weakness Lower limb muscle weakness Limb muscle weakness Muscular dystrophy Distal muscle weakness Myalgia Right bundle branch block Proximal muscle weakness Myopathy Abnormality of the musculature of the upper limbs Abnormality of masticatory muscle Fatigable weakness of neck muscles Hip flexor weakness Fatigable weakness of respiratory muscles Triceps weakness Decreased size of nerve terminals Decreased miniature endplate potentials Myotonia Difficulty climbing stairs Methylmalonic acidemia Abnormality of the skin Homocystinuria Methylmalonic aciduria Stomatitis Juvenile rheumatoid arthritis Megaloblastic anemia Macrocytic anemia Rheumatoid arthritis Incoordination Psychosis Pancytopenia Neutropenia Hypoventilation Small for gestational age Microtia Skin rash Arthritis Thrombocytopenia Limited extraocular movements Autophagic vacuoles Proximal muscle weakness in lower limbs Limb-girdle muscle weakness Progressive proximal muscle weakness EEG abnormality Infantile encephalopathy Deeply set eye Wide intermamillary distance Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Narrow palate Knee flexion contracture Multicystic kidney dysplasia Elbow flexion contracture Renal dysplasia Cardiomegaly Oligohydramnios Hepatic steatosis Hypoplastic toenails Hepatic failure Abnormality of the foot Dilated cardiomyopathy Apnea High forehead Arrhythmia Renal insufficiency Congestive heart failure Cardiomyopathy Fatigue Hyperreflexia Overfolded helix Cerebral hemorrhage Poor gross motor coordination Nonketotic hypoglycemia Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Macrovesicular hepatic steatosis Hyperkalemia Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Heart block Enlarged kidney Hepatomegaly Projectile vomiting Inability to walk Cerebral visual impairment Weakness of long finger extensor muscles Mood swings Developmental stagnation Bruxism Hyperventilation Poor eye contact Infantile spasms Loss of consciousness Spastic tetraparesis Progressive microcephaly Stereotypy Thoracolumbar kyphoscoliosis Postnatal microcephaly Hypsarrhythmia Intellectual disability, profound Apraxia Epileptic encephalopathy Focal-onset seizure Delayed myelination Generalized myoclonic seizures Sleep disturbance Short foot Small hand Multifocal seizures EEG with generalized slow activity Subependymal cysts Trigonocephaly Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Poor fine motor coordination Severe lactic acidosis Corpus callosum atrophy Poor coordination Lipoma Spastic diplegia Broad-based gait Dysarthria Progressive neurologic deterioration Spastic tetraplegia Increased serum lactate Hemolytic anemia Lactic acidosis Unsteady gait Spastic paraplegia Muscular hypotonia of the trunk Dystonia Hypertonia Optic atrophy Ankle weakness Anterior pituitary hypoplasia Weakness of the intrinsic hand muscles Glossoptosis Broad face Short 1st metacarpal Hypoplastic ilia Overlapping fingers Short hallux Anodontia Radial bowing Myelomeningocele Pierre-Robin sequence Carpal synostosis Tracheomalacia Delayed closure of the anterior fontanelle Growth hormone excess Synostosis of carpal bones Thickened calvaria Abnormal heart valve morphology Pathologic fracture Tarsal synostosis Tibial bowing Femoral bowing Congenital glaucoma Thoracic hypoplasia Flared iliac wings Bilateral conductive hearing impairment Broad hallux Radial deviation of the 2nd finger Delayed speech and language development Neoplasm Nystagmus Nonossified fifth metatarsal Undulate clavicles Irregular metacarpals Vertical clivus Bulbous tips of toes Accessory carpal bones Ureteral obstruction Rudimentary fibula Lethal skeletal dysplasia Bilateral coxa valga Spondylolysis Abnormal vertebral segmentation and fusion Abnormality of the middle ear ossicles Hypoplastic frontal sinuses Sclerosis of skull base Ulnar bowing Chordee Wide nasal base Fibular aplasia Hydroureter Hyperostosis Brachydactyly Brittle hair Skeletal dysplasia Retrognathia Cerebellar hypoplasia Syndactyly Talipes equinovarus Micrognathia Abnormal isoelectric focusing of serum transferrin Oxycephaly Severe intrauterine growth retardation Lipodystrophy Redundant skin Abnormal cardiac septum morphology Growth abnormality Coarse hair Cutis laxa Pachygyria High myopia Joint hypermobility Carious teeth Hip dislocation Pes planus Long philtrum Conductive hearing impairment Camptodactyly of finger Rocker bottom foot Broad thumb Elbow dislocation Preaxial polydactyly Short metatarsal Abnormality of the genitourinary system Abnormality of the metacarpal bones Oligodontia Wormian bones Short ribs Increased bone mineral density Short thumb Bowing of the long bones Platyspondyly Omphalocele Encephalocele Interphalangeal joint contracture of finger Abnormality of the ribs Postaxial hand polydactyly Short metacarpal Bifid uvula Pulmonary hypoplasia Genu valgum Toe syndactyly Narrow chest Visual impairment Ventricular septal defect Orthopnea Rectal prolapse Intussusception Duodenal ulcer Ectopic posterior pituitary Hepatoblastoma Gastric ulcer Generalized hypertrichosis Hypotrichosis of the scalp Abnormality of the head Aplasia/Hypoplasia of the patella Patellar hypoplasia Aplasia of the uterus Premature thelarche Short sternum Neoplasm of the liver Recurrent hypoglycemia Tics Enlarged cisterna magna Short 5th finger Dislocated radial head Abnormality of digit Ectopic kidney Anonychia Facial hypertrichosis Severe expressive language delay Precocious puberty Ophthalmoparesis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Thoracic kyphoscoliosis Reduced vital capacity Neck flexor weakness Type 1 muscle fiber predominance Shoulder girdle muscle weakness Upper limb muscle weakness Drowsiness Exertional dyspnea Restrictive ventilatory defect Easy fatigability Prominent interphalangeal joints Delayed gross motor development EMG: myopathic abnormalities Reduced tendon reflexes Diplopia Cyanosis Facial palsy Short distal phalanx of the 5th toe Lumbosacral hirsutism Hypoplastic fifth fingernail Short distal phalanx of the 5th finger Cutis marmorata Elevated alkaline phosphatase Atrial septal defect Low-set, posteriorly rotated ears Wide nose Short distal phalanx of finger Thick eyebrow Astigmatism Synophrys Hypotrichosis Short philtrum Wide mouth Autistic behavior Respiratory tract infection Joint laxity Single transverse palmar crease Aggressive behavior Umbilical hernia Coarse facial features Abdominal pain Recurrent respiratory infections Delayed skeletal maturation Patent ductus arteriosus Recurrent infections Kyphosis Behavioral abnormality Hirsutism Delayed eruption of teeth Hemangioma Choanal atresia Sacral dimple Spina bifida occulta Accelerated skeletal maturation Generalized hirsutism Horseshoe kidney Increased body weight Low anterior hairline Preauricular skin tag Tall stature Long eyelashes Sparse scalp hair Broad nasal tip Hypertrichosis Small nail Cerebellar vermis hypoplasia Renal hypoplasia Decreased fetal movement Congenital diaphragmatic hernia Hypotelorism Eczema Tetralogy of Fallot Growth hormone deficiency Intestinal malrotation Long-chain dicarboxylic aciduria


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